A SEVERE CASE OF BEARE-STEVENSON SYNDROME AND ASSOCIATED CONGENITAL DEFORMITIES

A severe case of congenital anomalies is described, with several chara cteristics of Beare-Stevenson syndrome, such as cutis gyrata, acanthos is nigricans, craniofacial anomalies, ear defects, enlarged umbilical stump and anogenital anomalies. He does not have craniosynostosis or c lover leaf skull, which has also been described in this syndrome. This patient also shows hands and feet anomalies, absence of skin adnexa i n several locations and dental anomalies, which could suggest an assoc iated ectodermal dysplasia.